Lysosomal storage disease

This study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…

This study tests whether a cream containing simvastatin (a cholesterol-lowering drug) can safely shrink yellow cholesterol deposits on the eyelids, called xanthelasma. Thirty adults will apply either the active cream or a placebo nightly for 24 weeks, then everyone gets the activ…

This early-stage trial tests a new drug called JR-446 in 12 children under 6 with MPS IIIB, a rare genetic disorder that damages the brain and body. The main goal is to see if the drug is safe and tolerable. Researchers will also measure changes in certain substances in the body …

This study tests whether adding hyaluronic acid gel to standard deep cleaning (scaling and root planing) improves gum healing in people with both diabetes and advanced gum disease. Twenty-three participants will receive the standard cleaning on all teeth, and then two gum pockets…

This early-stage trial tests a new gene therapy called VGN-R08b for children with type III Gaucher disease, a rare genetic disorder affecting the brain and body. The treatment is given as a single injection into the brain's fluid spaces. The study will monitor safety and measure …

This early-phase trial tests a gene therapy for children with CLN6 Batten disease, a rare and fatal brain disorder. Twelve children will receive a single injection of the therapy into the fluid around the spinal cord. Researchers will check if it is safe and if it can slow the di…

This phase 3 trial tests a drug called tralesinidase alfa in 14 children aged 1-5 with Sanfilippo syndrome type B, a rare genetic disease that causes severe brain damage. The drug is given directly into the brain fluid to replace a missing enzyme. The goal is to see if it can slo…

This phase 3 trial tests whether PLX-200 (gemfibrozil) can safely slow the progression of CLN3 disease, a rare genetic disorder that causes loss of motor skills, vision, and seizures in children. About 39 kids aged 6-18 will receive either the drug or a placebo for up to 96 weeks…

This early-stage trial tests a single dose of a gene therapy called DANAGALEX in 9 adults and children with aspartylglucosaminuria (AGU), a rare genetic disorder. The goal is to see if the treatment is safe and can reduce harmful substances in the body. Researchers will monitor s…

This early-stage trial tests giving a gene therapy to unborn babies diagnosed with GM1 gangliosidosis, a severe genetic disorder that damages the brain and body. The therapy uses a harmless virus to deliver a working copy of the missing enzyme gene. The main goal is to see if the…

This study tests a new gene therapy for GM2 gangliosidosis, which includes Tay-Sachs and Sandhoff diseases. Researchers will take blood cells from 6 patients, fix the genetic defect in the lab, and then see if these cells can help brain cells work better. The goal is to show the …

This study follows 75 adults with Fabry disease who are taking or starting pegunigalsidase alfa to see how well it works and how safe it is over time in real-world settings. Researchers will check heart structure and function, kidney health, and exercise capacity. The goal is to …

This trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…

People with Fanconi anaemia have a high risk of developing oral cancer, but standard biopsies are painful and risky due to their genetic sensitivity. This study tests a non-invasive oral brushing technique to detect early cancer cells in 115 patients aged 15 and older. If accurat…

This study follows 250 people with cystinosis, a rare genetic disorder that causes a buildup of the amino acid cystine, leading to damage in the kidneys, eyes, and other organs. Researchers will track how the disease progresses over time, including kidney function, eye problems, …

This study will take 3D scans of the inside of the mouth from 240 people with rare bone or cartilage diseases and from healthy volunteers. Researchers will use shape analysis and artificial intelligence to see if these scans can help tell different diseases apart. The goal is to …

This study will interview 35 adults in Sweden who have Fabry disease but are not yet receiving treatment. The goal is to learn how they experience their quality of life, daily activities, and healthcare support. By listening to patients' own stories, researchers hope to identify …

This survey will ask about 60 people—patients with Gaucher disease, their caregivers, and home infusion nurses—how well they understand and use educational materials for at-home VPRIV infusions. The materials include an infusion diary, a guide, and an emergency plan. The goal is …

This study will survey 200 adults with Fabry disease to understand how men and women experience different paths to diagnosis. Researchers want to see if symptoms or family screening lead to diagnosis more often in one sex, and how long diagnosis takes. The goal is to identify pat…

This study aims to create a physical activity and sedentary behaviour program tailored for adults with mucopolysaccharidosis (MPS). Researchers will gather input from patients, doctors, nurses, and family members through interviews, focus groups, and workshops. The goal is to des…

This study will test a special PET scan tracer and blood tests to better understand and predict heart damage in people with Fabry disease. Researchers will look at heart tissue samples and blood markers from 20 adult patients. The goal is to find new ways to diagnose and forecast…

This study looks at how energy production inside cells (mitochondria) works in people with cystinosis, a rare disease that causes cystine buildup and early aging. Researchers will measure cell energy activity in 25 patients and compare it to healthy people. The goal is to underst…

This pilot study will test a tablet-based tool called TICOALA that checks language comprehension and learning in children aged 3 to 7 who visit a child psychiatry service in Paris. Researchers want to see if children, parents, and clinicians find the tool acceptable and if a larg…

This 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …

This study will look at 35 children with joint problems that are not caused by inflammation, such as stiffness or deformity. Researchers will use exams, lab tests, and imaging to find the true cause, which could be rare genetic conditions like mucopolysaccharidoses or osteogenesi…